Incidental Mutation 'R0111:Ube3b'
| ID |
20445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
038397-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0111 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 114528437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
[ENSMUST00000151809]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074002
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
488 |
N/A |
INTRINSIC |
|
HECTc
|
697 |
1070 |
2.15e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130169
|
| SMART Domains |
Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151809
|
| SMART Domains |
Protein: ENSMUSP00000142943
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
5.6e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.8%
|
| Validation Efficiency |
100% (65/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
T |
17: 56,124,073 (GRCm39) |
H491L |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,738 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,606,743 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,594,864 (GRCm39) |
Y334H |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,717,157 (GRCm39) |
D101V |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,907,566 (GRCm39) |
N57K |
probably benign |
Het |
| Clec4d |
C |
A |
6: 123,245,006 (GRCm39) |
Y95* |
probably null |
Het |
| Cracr2a |
A |
G |
6: 127,581,024 (GRCm39) |
T67A |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,533,961 (GRCm39) |
V53D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,507,843 (GRCm39) |
D3076G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,464 (GRCm39) |
M608T |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,794,183 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,454,339 (GRCm39) |
V1884A |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,879,595 (GRCm39) |
S674R |
probably benign |
Het |
| Hoxa2 |
T |
G |
6: 52,141,467 (GRCm39) |
|
probably null |
Het |
| Ifi47 |
T |
A |
11: 48,986,897 (GRCm39) |
N221K |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,333,662 (GRCm39) |
V340A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,851,960 (GRCm39) |
N373K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,129,771 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,523 (GRCm39) |
T6A |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,044,493 (GRCm39) |
I131F |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,361,991 (GRCm39) |
D91G |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,577,702 (GRCm39) |
T572I |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,046,077 (GRCm39) |
F1710L |
probably benign |
Het |
| Or13e8 |
T |
C |
4: 43,696,648 (GRCm39) |
N175S |
probably damaging |
Het |
| Or6c6c |
T |
A |
10: 129,541,146 (GRCm39) |
I133N |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,555,254 (GRCm39) |
L92P |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,462,651 (GRCm39) |
Y1445* |
probably null |
Het |
| Pde1b |
T |
C |
15: 103,411,940 (GRCm39) |
S14P |
probably benign |
Het |
| Pitpna |
T |
C |
11: 75,516,310 (GRCm39) |
V265A |
probably benign |
Het |
| Plec |
G |
T |
15: 76,062,846 (GRCm39) |
T2476K |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Ppp3cc |
C |
T |
14: 70,493,808 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
G |
7: 127,533,717 (GRCm39) |
L530P |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,728,629 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,214,691 (GRCm39) |
D1570G |
probably damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,676 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,438,737 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,983 (GRCm39) |
E2043G |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,778,443 (GRCm39) |
S341F |
probably damaging |
Het |
| Samd9l |
C |
T |
6: 3,374,946 (GRCm39) |
V772I |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,510,074 (GRCm39) |
M654T |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,686 (GRCm39) |
K407E |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,743 (GRCm39) |
P333S |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,187,744 (GRCm39) |
R162S |
probably benign |
Het |
| Spryd3 |
A |
T |
15: 102,036,972 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,166 (GRCm39) |
F66L |
probably benign |
Het |
| Tent5c |
T |
C |
3: 100,380,102 (GRCm39) |
D218G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,532 (GRCm39) |
N196S |
probably benign |
Het |
| Themis2 |
C |
A |
4: 132,517,236 (GRCm39) |
R88L |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,736,854 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,892,624 (GRCm39) |
H64Q |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,435,022 (GRCm39) |
R561G |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,117,525 (GRCm39) |
D604G |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,418 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,338,722 (GRCm39) |
N321I |
probably damaging |
Het |
| Zfp595 |
A |
G |
13: 67,468,984 (GRCm39) |
F11S |
possibly damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,139 (GRCm39) |
H271L |
probably damaging |
Het |
|
| Other mutations in Ube3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ube3b
|
APN |
5 |
114,553,348 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01154:Ube3b
|
APN |
5 |
114,544,313 (GRCm39) |
missense |
probably null |
0.86 |
|
IGL02632:Ube3b
|
APN |
5 |
114,536,902 (GRCm39) |
missense |
probably benign |
|
|
IGL02850:Ube3b
|
APN |
5 |
114,544,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Ube3b
|
APN |
5 |
114,542,778 (GRCm39) |
splice site |
probably null |
|
|
IGL02881:Ube3b
|
APN |
5 |
114,550,945 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0003:Ube3b
|
UTSW |
5 |
114,536,912 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0071:Ube3b
|
UTSW |
5 |
114,557,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Ube3b
|
UTSW |
5 |
114,557,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Ube3b
|
UTSW |
5 |
114,546,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0076:Ube3b
|
UTSW |
5 |
114,546,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0309:Ube3b
|
UTSW |
5 |
114,557,530 (GRCm39) |
splice site |
probably benign |
|
|
R0718:Ube3b
|
UTSW |
5 |
114,540,616 (GRCm39) |
nonsense |
probably null |
|
|
R1344:Ube3b
|
UTSW |
5 |
114,556,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Ube3b
|
UTSW |
5 |
114,544,198 (GRCm39) |
splice site |
probably null |
|
|
R1418:Ube3b
|
UTSW |
5 |
114,556,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Ube3b
|
UTSW |
5 |
114,525,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1764:Ube3b
|
UTSW |
5 |
114,542,678 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1975:Ube3b
|
UTSW |
5 |
114,537,926 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2014:Ube3b
|
UTSW |
5 |
114,549,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Ube3b
|
UTSW |
5 |
114,549,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Ube3b
|
UTSW |
5 |
114,525,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2074:Ube3b
|
UTSW |
5 |
114,553,316 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2202:Ube3b
|
UTSW |
5 |
114,527,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Ube3b
|
UTSW |
5 |
114,527,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3829:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3830:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3927:Ube3b
|
UTSW |
5 |
114,553,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3974:Ube3b
|
UTSW |
5 |
114,550,491 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4049:Ube3b
|
UTSW |
5 |
114,550,931 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4096:Ube3b
|
UTSW |
5 |
114,531,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4261:Ube3b
|
UTSW |
5 |
114,536,489 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4415:Ube3b
|
UTSW |
5 |
114,550,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Ube3b
|
UTSW |
5 |
114,531,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4779:Ube3b
|
UTSW |
5 |
114,542,778 (GRCm39) |
splice site |
probably null |
|
|
R4824:Ube3b
|
UTSW |
5 |
114,553,787 (GRCm39) |
splice site |
probably null |
|
|
R4868:Ube3b
|
UTSW |
5 |
114,536,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Ube3b
|
UTSW |
5 |
114,539,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5013:Ube3b
|
UTSW |
5 |
114,545,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Ube3b
|
UTSW |
5 |
114,544,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5117:Ube3b
|
UTSW |
5 |
114,557,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5131:Ube3b
|
UTSW |
5 |
114,545,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Ube3b
|
UTSW |
5 |
114,556,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Ube3b
|
UTSW |
5 |
114,527,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Ube3b
|
UTSW |
5 |
114,544,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5580:Ube3b
|
UTSW |
5 |
114,553,384 (GRCm39) |
missense |
probably benign |
|
|
R5596:Ube3b
|
UTSW |
5 |
114,544,221 (GRCm39) |
splice site |
probably null |
|
|
R5843:Ube3b
|
UTSW |
5 |
114,550,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6591:Ube3b
|
UTSW |
5 |
114,546,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6691:Ube3b
|
UTSW |
5 |
114,546,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7148:Ube3b
|
UTSW |
5 |
114,544,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7334:Ube3b
|
UTSW |
5 |
114,553,742 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7438:Ube3b
|
UTSW |
5 |
114,556,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Ube3b
|
UTSW |
5 |
114,553,345 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7640:Ube3b
|
UTSW |
5 |
114,553,384 (GRCm39) |
missense |
probably benign |
|
|
R7825:Ube3b
|
UTSW |
5 |
114,539,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Ube3b
|
UTSW |
5 |
114,539,484 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8025:Ube3b
|
UTSW |
5 |
114,546,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Ube3b
|
UTSW |
5 |
114,544,846 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8087:Ube3b
|
UTSW |
5 |
114,550,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8182:Ube3b
|
UTSW |
5 |
114,530,199 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8322:Ube3b
|
UTSW |
5 |
114,540,747 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8465:Ube3b
|
UTSW |
5 |
114,528,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Ube3b
|
UTSW |
5 |
114,550,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Ube3b
|
UTSW |
5 |
114,531,151 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8758:Ube3b
|
UTSW |
5 |
114,553,261 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8784:Ube3b
|
UTSW |
5 |
114,526,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Ube3b
|
UTSW |
5 |
114,553,300 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9072:Ube3b
|
UTSW |
5 |
114,542,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9116:Ube3b
|
UTSW |
5 |
114,542,837 (GRCm39) |
intron |
probably benign |
|
|
R9537:Ube3b
|
UTSW |
5 |
114,525,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Ube3b
|
UTSW |
5 |
114,527,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Ube3b
|
UTSW |
5 |
114,553,646 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAGAAAGCCATCGGGTGTTTAC -3'
(R):5'- GGCAAAAGTGTTTCTCATGCAGCAG -3'
Sequencing Primer
(F):5'- gacagataaggaaccaaagcac -3'
(R):5'- TCTCATGCAGCAGGGGTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation